Mutagenetix > Incidental Mutation

Incidental Mutation 'R2384:Trim26'

247662

Institutional Source

Beutler Lab

Gene Symbol

Trim26

Ensembl Gene

ENSMUSG00000024457

Gene Name

tripartite motif-containing 26

Synonyms

Zfp173

MMRRC Submission

040358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37148026-37170290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37161781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 67 (P67S)

Ref Sequence

ENSEMBL: ENSMUSP00000136651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053434] [ENSMUST00000123715] [ENSMUST00000124136] [ENSMUST00000130367] [ENSMUST00000130801] [ENSMUST00000144182] [ENSMUST00000179968]

AlphaFold

Q99PN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000053434
AA Change: P67S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060103
Gene: ENSMUSG00000024457
AA Change: P67S

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123715
AA Change: P67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118438
Gene: ENSMUSG00000024457
AA Change: P67S

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124136

SMART Domains

Protein: ENSMUSP00000120764
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
PRY	121	173	6.18e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130367
AA Change: P67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114896
Gene: ENSMUSG00000024457
AA Change: P67S

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130801
AA Change: P67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118388
Gene: ENSMUSG00000024457
AA Change: P67S

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134325

Predicted Effect

probably damaging
Transcript: ENSMUST00000144182
AA Change: P67S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114565
Gene: ENSMUSG00000024457
AA Change: P67S

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179968
AA Change: P67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136651
Gene: ENSMUSG00000024457
AA Change: P67S

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156872

Meta Mutation Damage Score

0.4752

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.5%

Validation Efficiency

100% (37/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933414I15Rik	A	G	11: 50,833,333 (GRCm39)	S90P	unknown	Het
Abca13	T	C	11: 9,217,450 (GRCm39)		probably benign	Het
Chpf	C	T	1: 75,451,753 (GRCm39)	R567H	probably benign	Het
Cnp	A	G	11: 100,467,279 (GRCm39)	Y74C	probably damaging	Het
Cul3	A	T	1: 80,261,406 (GRCm39)	V273D	probably damaging	Het
Dnmt3a	A	G	12: 3,951,591 (GRCm39)	Y656C	probably damaging	Het
Erich3	A	T	3: 154,470,288 (GRCm39)	E107V	possibly damaging	Het
Fscn2	T	C	11: 120,257,559 (GRCm39)	S307P	possibly damaging	Het
Grm5	A	G	7: 87,251,936 (GRCm39)	E62G	probably damaging	Het
Hdac4	T	C	1: 91,912,207 (GRCm39)	Y394C	probably benign	Het
Hipk2	A	G	6: 38,795,306 (GRCm39)	I314T	probably damaging	Het
Hsd17b12	T	A	2: 93,863,964 (GRCm39)	I293L	probably benign	Het
Il36g	A	G	2: 24,082,660 (GRCm39)	H145R	probably benign	Het
Ints12	T	A	3: 132,814,864 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,558,976 (GRCm39)	S369G	probably damaging	Het
Klrh1	T	A	6: 129,749,343 (GRCm39)	H84L	probably benign	Het
Mup5	T	A	4: 61,753,261 (GRCm39)		probably null	Het
Nlrp4g	A	G	9: 124,349,707 (GRCm38)		noncoding transcript	Het
Obscn	A	G	11: 58,933,663 (GRCm39)		probably null	Het
Ogdh	C	A	11: 6,292,526 (GRCm39)	A413D	probably damaging	Het
Podn	T	C	4: 107,879,269 (GRCm39)	E283G	probably damaging	Het
Ripk1	A	G	13: 34,214,026 (GRCm39)	D456G	probably benign	Het
Saxo4	A	C	19: 10,458,646 (GRCm39)		probably null	Het
Scg3	T	C	9: 75,573,008 (GRCm39)	T308A	probably damaging	Het
Sele	A	G	1: 163,878,344 (GRCm39)	T228A	probably benign	Het
Slc41a3	A	G	6: 90,603,393 (GRCm39)	E138G	probably damaging	Het
Tmem161a	T	C	8: 70,630,204 (GRCm39)	V104A	probably benign	Het
Tmem232	G	A	17: 65,709,852 (GRCm39)	R479W	probably damaging	Het
Trpm8	A	G	1: 88,287,378 (GRCm39)	Y787C	probably benign	Het
Ttc28	T	A	5: 111,424,074 (GRCm39)	V1447D	possibly damaging	Het
Uaca	G	A	9: 60,777,199 (GRCm39)	A527T	probably damaging	Het
Ucp2	A	G	7: 100,147,461 (GRCm39)	I172V	probably benign	Het
Zzef1	T	A	11: 72,749,220 (GRCm39)	Y903N	probably damaging	Het

Other mutations in Trim26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:Trim26	APN	17	37,161,797 (GRCm39)	missense	probably damaging	1.00
R0047:Trim26	UTSW	17	37,168,756 (GRCm39)	unclassified	probably benign
R0483:Trim26	UTSW	17	37,163,598 (GRCm39)	splice site	probably benign
R0732:Trim26	UTSW	17	37,163,510 (GRCm39)	missense	possibly damaging	0.54
R2409:Trim26	UTSW	17	37,161,895 (GRCm39)	missense	probably damaging	1.00
R4864:Trim26	UTSW	17	37,168,886 (GRCm39)	unclassified	probably benign
R5121:Trim26	UTSW	17	37,161,958 (GRCm39)	nonsense	probably null
R5463:Trim26	UTSW	17	37,162,016 (GRCm39)	missense	probably damaging	1.00
R6259:Trim26	UTSW	17	37,167,110 (GRCm39)	missense	probably benign	0.07
R7863:Trim26	UTSW	17	37,161,664 (GRCm39)	missense	probably damaging	1.00
R8090:Trim26	UTSW	17	37,167,640 (GRCm39)	missense	possibly damaging	0.60
R8344:Trim26	UTSW	17	37,168,602 (GRCm39)	missense	unknown
R8405:Trim26	UTSW	17	37,167,095 (GRCm39)	missense	possibly damaging	0.48
R9713:Trim26	UTSW	17	37,168,307 (GRCm39)	missense	probably damaging	1.00
Z1177:Trim26	UTSW	17	37,168,464 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACCTAAGGGTGCAATGGC -3'
(R):5'- TTTCTCCACCAGGACTGCAG -3'

Sequencing Primer
(F):5'- AGTGTCAGCCCCCTTGAG -3'
(R):5'- ACCAGGACTGCAGTGTGG -3'

Posted On

2014-11-11